chr11:62469965:G>A Detail (hg19) (BSCL2, HNRNPUL2-BSCL2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr11:62,469,965-62,469,965
hg38	chr11:62,702,493-62,702,493 View the variant detail on this assembly version.

HGVS

BSCL2
HNRNPUL2-BSCL2

Type	Transcript	Protein
RefSeq	NM_032667.6:c.269C>T	NP_116056.3:p.Ser90Leu
	NR_037948.1:c.461C>T
	NR_037949.1:c.461C>T
	NM_001130702.2:c.269C>T	NP_001124174.2:p.Ser90Leu
	NM_001122955.3:c.461C>T	NP_001116427.1:p.Ser154Leu
Ensemble	ENST00000683296.1:c.461C>T	ENST00000683296.1:p.Ser154Leu
	ENST00000407022.7:c.269C>T	ENST00000407022.7:p.Ser90Leu
	ENST00000684475.1:c.461C>T	ENST00000684475.1:p.Ser154Leu
	ENST00000682223.1:c.461C>T	ENST00000682223.1:p.Ser154Leu
	ENST00000421906.5:c.269C>T	ENST00000421906.5:p.Ser90Leu
	ENST00000405837.5:c.461C>T	ENST00000405837.5:p.Ser154Leu
	ENST00000278893.11:c.269C>T	ENST00000278893.11:p.Ser90Leu
	ENST00000449636.6:c.-32C>T
	ENST00000684067.1:c.461C>T	ENST00000684067.1:p.Ser154Leu
	ENST00000360796.10:c.461C>T	ENST00000360796.10:p.Ser154Leu
	ENST00000679883.1:c.461C>T	ENST00000679883.1:p.Ser154Leu
	ENST00000524862.6:c.461C>T	ENST00000524862.6:p.Ser154Leu
	ENST00000403550.5:c.269C>T	ENST00000403550.5:p.Ser90Leu

Type	Transcript	Protein
RefSeq	NR_037946.1:c.*512C>T
Ensemble	ENST00000403734.2:c.*512C>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

BSCL2
HNRNPUL2-BSCL2

Type	Database	ID	Link
Gene	MIM	606158	OMIM
	HGNC	15832	HGNC
	Ensembl	ENSG00000168000	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM689857	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM
	HGNC	49189	HGNC
	Ensembl	ENSG00000234857	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM689857	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2017-10-23	no assertion criteria provided	hereditary spastic paraplegia 17	germline	Detail
Pathogenic	2023-02-02	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2024-01-12	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail
Pathogenic	2019-02-11	no assertion criteria provided	hereditary spastic paraplegia 17,Neuronopathy, distal hereditary motor, type 5A	unknown	Detail
Pathogenic	2019-02-11	no assertion criteria provided	hereditary spastic paraplegia 17,Neuronopathy, distal hereditary motor, type 5A	unknown	Detail
Pathogenic	2010-09-01	no assertion criteria provided	Neuronopathy, distal hereditary motor, type 5C	germline	Detail
Likely pathogenic	2021-07-10	criteria provided, single submitter		de novo	Detail
Uncertain significance	2016-01-06	no assertion criteria provided	Berardinelli-Seip congenital lipodystrophy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.001	Peripheral motor neuropathy	To understand the underlying mechanisms how the mutations lead to motor neuropat...	BeFree	23470542	Detail
0.242	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	Recently, gain-of-toxic-function mutations (namely, mutations N88S and S90L) in ...	BeFree	18790819	Detail
0.323	congenital generalized lipodystrophy type 2	Heterozygosity for missense mutations (N88S/S90L) in BSCL2 (Berardinelli-Seip co...	BeFree	23470542	Detail
0.365	Spastic paraplegia 17	We studied the first Korean families with clinical features resembling classic S...	BeFree	17486577	Detail
0.003	Russell-Silver syndrome	We studied the first Korean families with clinical features resembling classic S...	BeFree	17486577	Detail
<0.001	Pyramidal sign	Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.	BeFree	20806400	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) AND Hereditary spastic paraplegia 17	ClinVar	Detail
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) AND not provided	ClinVar	Detail
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) AND multiple conditions	ClinVar	Detail
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) AND multiple conditions	ClinVar	Detail
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) AND Neuronopathy, distal hereditary motor, type 5C	ClinVar	Detail
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) AND Abnormal central motor function	ClinVar	Detail
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) AND Berardinelli-Seip congenital lipodystrophy	ClinVar	Detail
To understand the underlying mechanisms how the mutations lead to motor neuropathy, we generated tra...	DisGeNET	Detail
Recently, gain-of-toxic-function mutations (namely, mutations N88S and S90L) in the seipin gene have...	DisGeNET	Detail
Heterozygosity for missense mutations (N88S/S90L) in BSCL2 (Berardinelli-Seip congenital lipodystrop...	DisGeNET	Detail
We studied the first Korean families with clinical features resembling classic Silver syndrome and d...	DisGeNET	Detail
We studied the first Korean families with clinical features resembling classic Silver syndrome and d...	DisGeNET	Detail
Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs137852973 dbSNP
Genome: hg19
Position: chr11:62,469,965-62,469,965
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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